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All inquiries, additions to the list, and comments should be made to Bill Copeland.
Amino Acid Substitution: L966R
cDNA Position: 2897 t→g (exon 18)
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Disease | Genetics | Frequency | Reference |
Alpers | Compound with A467T | Not found in 300 control chromosomes | (Nguyen et al., 2006) PubMed |
Alpers | In trans w/A467T. | (Ashley et al., 2008) and a correction in (Ashley et al., 2009) PubMed |
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Alpers | Found in trans w/A467T in a 1 y.o. w/ seizures and developmentally delayed | (Hunter et al., 2011) PubMed |
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Alpers | Found in trans w/A467T in a 1 y.o. w/ seizures and developmentally delayed | (Hunter et al., 2011) PubMed |
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Alpers | Found in trans w/A467T in a 17 mo. old male with seizures and encephalopathy | (McCoy et al., 2011) PubMed |